Canonical Allele Identifier: CA346674871

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1456693302
• gnomAD v2: 2-44121743-T-C
• gnomAD v4: 2-43894604-T-C
• MyVariant Identifiers: chr2:g.44121743T>C (hg19) ; chr2:g.43894604T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894604T>C , CM000664.2:g.43894604T>C	GRCh38
NC_000002.11:g.44121743T>C , CM000664.1:g.44121743T>C	GRCh37
NC_000002.10:g.43975247T>C	NCBI36
NG_008247.1:g.106402A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.556A>G
ENST00000681993.1:n.1478A>G
ENST00000682154.1:n.1360A>G
ENST00000682303.1:c.*3637A>G	ENSP00000508325.1:n.*3637A>G
ENST00000682308.1:c.3851A>G	ENSP00000507056.1:p.Glu1284Gly
ENST00000682434.1:n.3481A>G
ENST00000682480.1:c.3944A>G	ENSP00000508344.1:p.Glu1315Gly
ENST00000682546.1:c.3923A>G	ENSP00000508188.1:p.Glu1308Gly
ENST00000682585.1:c.*54A>G	ENSP00000506885.1:n.*54A>G
ENST00000682607.1:c.2669A>G
ENST00000682612.1:c.752+2030A>G
ENST00000682696.1:c.26A>G	ENSP00000508411.1:p.Glu9Gly
ENST00000682779.1:c.3917A>G	ENSP00000507947.1:p.Glu1306Gly
ENST00000682885.1:c.3881A>G	ENSP00000508036.1:p.Glu1294Gly
ENST00000682933.1:n.4126A>G
ENST00000683002.1:c.778A>G
ENST00000683072.1:n.4510A>G
ENST00000683080.1:n.1545A>G
ENST00000683096.1:n.2367A>G
ENST00000683125.1:c.4034A>G	ENSP00000507939.1:p.Glu1345Gly
ENST00000683213.1:c.3929A>G	ENSP00000507751.1:p.Glu1310Gly
ENST00000683220.1:c.3956A>G	ENSP00000507151.1:p.Glu1319Gly
ENST00000683329.1:n.4729A>G
ENST00000683346.1:c.*3801A>G	ENSP00000507458.1:n.*3801A>G
ENST00000683409.1:n.2458A>G
ENST00000683459.1:n.4513A>G
ENST00000683590.1:c.3599A>G	ENSP00000506820.1:p.Glu1200Gly
ENST00000683623.1:c.3833A>G	ENSP00000507702.1:p.Glu1278Gly
ENST00000683796.1:c.*3723A>G	ENSP00000508221.1:n.*3723A>G
ENST00000683833.1:c.3842A>G	ENSP00000506852.1:p.Glu1281Gly
ENST00000683994.1:c.*39A>G	ENSP00000507181.1:n.*39A>G
ENST00000684290.1:c.*1387A>G	ENSP00000507243.1:n.*1387A>G
ENST00000684306.1:c.*3839A>G	ENSP00000508384.1:n.*3839A>G
ENST00000684383.1:c.*3564A>G	ENSP00000506863.1:n.*3564A>G
ENST00000684418.1:n.5107A>G
ENST00000684433.1:n.310A>G
ENST00000684454.1:n.7790A>G
ENST00000684619.1:c.*3798A>G	ENSP00000508088.1:n.*3798A>G
ENST00000684743.1:n.6671A>G
ENST00000260665.12:c.3926A>G MANE Select	ENSP00000260665.7:p.Glu1309Gly
ENST00000260665.11:c.3926A>G	ENSP00000260665.7:p.Glu1309Gly
ENST00000419884.5:c.167A>G	ENSP00000414207.1:p.Glu56Gly
ENST00000463456.5:n.2969A>G
NM_133259.3:c.3926A>G	NP_573566.2:p.Glu1309Gly
XM_006711915.2:c.3848A>G	XP_006711978.1:p.Glu1283Gly
XM_011532473.1:c.3851A>G	XP_011530775.1:p.Glu1284Gly
XM_011532474.1:c.3926A>G	XP_011530776.1:p.Glu1309Gly
XM_017003117.1:c.3773A>G	XP_016858606.1:p.Glu1258Gly
XR_002958896.1:n.3968A>G
NM_133259.4:c.3926A>G MANE Select	NP_573566.2:p.Glu1309Gly